A one-year-old boy was brought by his parents with complaints of a small head, seizure episodes and limb abnormalities since birth. The BERA test reveals sensorineural hearing loss in both ears.
The photographs of the patient show a small head and mandible, Frontal and lateral radiographs of the skull show microcephaly. Non-contrast enhanced CT scan of the brain shows periventricular calcifications with ventriculomegaly.